Showing results (1041-1050 of 9,283) with videos related to

Sort By:
Pageof 929
American Journal of Medical Genetics. Part A|September 25, 2018
Heterozygous WNT1 variant causing a variable bone phenotypeShatha Alhamdi, Yi-Chien Lee, Shimul Chowdhury, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
A case of severe TBCE-negative hypoparathyroidism-retardation-dysmorphism syndrome: Case report and literature reviewAnna Ryabets-Lienhard, Satja Issaranggoon Na Ayuthaya, John M Graham, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndromeDimitri Renard, Guillaume Taieb, Matteo Garibaldi, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Expanding the fetal phenotype: Prenatal sonographic findings and perinatal outcomes in a cohort of patients with a confirmed 22q11.2 deletion syndromeErica Schindewolf, Nahla Khalek, Mark P Johnson, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Health supervision for people with Bloom syndromeChristopher Cunniff, Amir Reza Djavid, Steven Carrubba, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
Novel mosaic SRY gene deletions in three newborn males with variable genitourinary malformationsJennifer Roberts, Dmitry Lyalin, Norwood Tosatto, et al.
American Journal of Medical Genetics. Part A|July 29, 2018
A recessive truncating variant in thrombospondin-1 domain containing protein 1 gene THSD1 is the underlying cause of nonimmune hydrops fetalis, congenital cardiac defects, and haemangiomas in four patients from a consanguineous familyHanadi A Abdelrahman, Aisha Al-Shamsi, Anne John, et al.
American Journal of Medical Genetics. Part A|August 1, 2018
Further delineation of spondyloepimetaphyseal dysplasia Faden-Alkuraya type: A RSPRY1-associated spondylo-epi-metaphyseal dysplasia with cono-brachydactyly and craniosynostosisPelin O Simsek-Kiper, Ekim Z Taskiran, Can Kosukcu, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndromeHugo H Abarca Barriga, Nathaly Caballero, Milana Trubnykova, et al.
American Journal of Medical Genetics. Part A|September 9, 2018
Genomic detection of a familial 382 Kb 6q27 deletion in a fetus with isolated severe ventriculomegaly and her affected motherMili Thakur, Elena Bronshtein, Michael Hankerd, et al.
Pageof 929